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| Nomenclature |
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Symbol:
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Tg(NEFL*E397K)#Milg
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Name:
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transgene insertion, Michael L Garcia
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MGI ID: |
MGI:5141088 |
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Synonyms: |
hNF-LE397K |
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Transgene:
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Tg(NEFL*E397K)#Milg
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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Not Specified
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: This transgene constitutively expresses human neurofilament light (about 9.7 kb genomic fragment including the 1.7 kb endogenous 5' promoter sequence) with a G-to-A nucleotide substitution at nucleotide 3332 resulting in a glutamic acid to lysine mutation at position 397. Four lines were made, 661, 727, 728, and 730. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:173771)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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| References |
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Original: |
J:173771
Shen H et al.,
"Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E."
Hum Mol Genet 2011 Jul 1;20(13):2535-48
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All: |
1 reference(s)
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Analysis Tools
